A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582531



Internal ID16023254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100292046..100591177hg38UCSC Ensembl
Innerchr2:100908508..101207639hg19UCSC Ensembl
Innerchr2:100274940..100574071hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38299132
hg19299132
hg18299132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv914553
Samples
Known GenesCHST10, LONRF2, NMS, PDCL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582531
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer